A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens (original) (raw)
References
Arikawa, K., Molday, L.L., Molday, R.S. & Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Biol.116, 659–667 (1992). ArticleCASPubMed Google Scholar
Connell, G.J. & Molday, R.S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochem.29, 4691–4698 (1990). ArticleCAS Google Scholar
Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R.R. & Molday, R.S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. natn Acad. Sci. U.S.A.88, 723–726 (1991). ArticleCAS Google Scholar
Travis, G.H., Brennan, M.B., Danielson, P.E., Kozak, C.A. & Sutcliffe, J.G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature338, 70–73 (1989). ArticleCASPubMed Google Scholar
Begy, C. & Bridges, C.D. Nucleotide and predicted protein sequence of rat retinal degeneration slow(rds). Nucl. Acids Res.18, 3058 (1990). ArticleCASPubMedPubMed Central Google Scholar
Travis, G.H. et al. The human retinal degeneration slow (RDS) gene: chromosomal assignment and structure of the mRNA. Genomics10, 733–739 (1991). ArticleCASPubMed Google Scholar
van Nie, R., Ivanyi, D. & Demant, P. A new H-2 linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens12, 106–108 (1978). ArticleCASPubMed Google Scholar
Travis, G.H., Groshan, K.R., Lloyd, M. & Bok, D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron9, 113–119 (1992). ArticleCASPubMed Google Scholar
Kajiwara, K., Hahn, L.B., Mukai, S., Travis, G.H., Berson, E.L. & Dryja, T.P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature354, 480–483 (1991). ArticleCASPubMed Google Scholar
Farrar, G.J. et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature354, 478–480 (1991). ArticleCASPubMed Google Scholar
Orita, M. et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. natn. Acad. Sci. USA.86, 2766–2770 (1989). ArticleCAS Google Scholar
Berson, E.L. Retinitis pigmentosa and allied retinal diseases: electrophysiologic findings. Trans. Am. Acad. Ophthalmol. Otolaryngol.81, 659–666 (1976). Google Scholar
Sandberg, M.A., Miller, S. & Berson, E.L. Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Invest. Ophthal. vis. Sci.31, 2283–2287 (1990). CASPubMed Google Scholar
Lauber, H. Die sogenannte Retinitis punctata albescens. Klin. Monatsbl. Augenheilkd.48, 133–148 (1910). Google Scholar
Franceschetti, A., Francois, J. & Babel, J. Chorioretinal Heredodegenerations229 (Charles C. Thomas, Springfield, Illinois, 1963). Google Scholar
Diem, M. Retinitis punctata albescens et pigmentosa. Klin. Monatsbl. Augenheilkd.53, 371–379 (1914). Google Scholar
Pillat, A. Tapetoretinal degeneration of the central fundus region. Am. J. Ophthalmol.13, 1–12 (1930). Article Google Scholar
Wuestefeld, F. Zur Casuistik der Retinitis punctata albescens. Zeitschr. f. Augenheilk.5, 110–115 (1901). Google Scholar
Ellis, D.S. & Heckenlively, J.R. Retinitis punctata albescens. Fundus appearance and functional abnormalities. Retina3, 27–31 (1983). Article Google Scholar
Nettleship, E. A note on the progress of some cases of retinitis pigmentosa sine pigmento and of retinitis punctata albescens. Royal Lond. Ophthal. Hosp. Rep.19, 123–129 (1914). Google Scholar
Kinniburgh, A.J., Maquat, L.E., Schedl, T., Rachmilewitz, E.A. & Ross, J. mRNA-deficient β° thalassemia results from a single nucleotide deletion. Nuc. Acids Res.10, 5421–5427 (1982). ArticleCAS Google Scholar
Sanyal, S., Chader, G. & Aguirre, G. in Retinal Degenerations: Experimental and Clinical Studies 239–256 (Alan R. Liss, New York, 1985). Google Scholar
Wataya, T. A histopathological study of retinitis punctata albescens. Jpn. J. clin. Ophthalmol.14, 552–555 (1960). Google Scholar
Dryja, T.P., Hahn, L.B., Cowley, G.S., McGee, T.L. & Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A.88, 9370–9374 (1991). ArticleCAS Google Scholar
Sung, C.H. et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A.88, 6481–6485 (1991). ArticleCAS Google Scholar
Inglehearn, C.F. et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum. molec. Genet.1, 41–45 (1992). ArticleCASPubMed Google Scholar
Sheffield, V.C., Fishman, G.A., Beck, J.S., Kimura, A.E. & Stone, E.M. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet.49, 699–706 (1991). CASPubMedPubMed Central Google Scholar
Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet.1, 209–213 (1992). ArticleCASPubMed Google Scholar
Yandell, D.W. & Dryja, T.P. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am. J. hum. Genet.45, 547–555 (1989). CASPubMedPubMed Central Google Scholar
Yandell, D.W. & Dryja, T.P. in Cold Spring Harbor Symposium Series: Cancer Cells 7 - Molecular Diagnostics of Human Cancer (eds Furth, M. & Greaves, M.) 223–227 (Cold Spring Harbor Press, New York, 1989).
Berson, E.L., Gouras, P. & Gunkel, R.D. Rod responses in retinitis pigmentosa, dominantly inherited. Arch. Ophthalmol.80, 58–67 (1968). ArticleCASPubMed Google Scholar
Reichel, E., Bruce, A.M., Sandberg, M.A. & Berson, E.L. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am. J. Ophthalmol.108, 540–547 (1989). ArticleCASPubMed Google Scholar